gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018337 (NFE)
Genomes Max Group AF
0.00019436 (NFE)
Exomes Max Group AF
0.00017734 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99594773T>C , CM000666.2:g.99594773T>C | GRCh38 |
| NC_000004.11:g.100515930T>C , CM000666.1:g.100515930T>C | GRCh37 |
| NC_000004.10:g.100734953T>C | NCBI36 |
| NG_011469.1:g.35691T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.799T>C MANE Select | ENSP00000265517.5:p.Leu267= | |
| ENST00000457717.6:c.799T>C | ENSP00000400821.1:p.Leu267= | |
| ENST00000511045.6:c.550T>C | ENSP00000427679.2:p.Leu184= | |
| ENST00000265517.9:c.799T>C | ENSP00000265517.5:p.Leu267= | |
| ENST00000457717.5:c.799T>C | ENSP00000400821.1:p.Leu267= | |
| ENST00000511045.5:c.880T>C | ENSP00000427679.1:p.Leu294= | |
| ENST00000619629.1:c.799T>C | ENSP00000482850.1:p.Leu267= | |
| NM_000253.3:c.799T>C | NP_000244.2:p.Leu267= | |
| NM_001300785.1:c.880T>C | NP_001287714.1:p.Leu294= | |
| NM_000253.4:c.799T>C | NP_000244.2:p.Leu267= | |
| NM_001300785.2:c.550T>C | NP_001287714.2:p.Leu184= | |
| NM_001386140.1:c.799T>C MANE Select | NP_001373069.1:p.Leu267= |